List of variants in gene SPG11 reported as pathogenic by Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro)	rs201689565	0.00011
NM_025137.4(SPG11):c.704_705del (p.His235fs)	rs312262719	0.00002
NM_025137.4(SPG11):c.5986dup (p.Cys1996fs)	rs312262775	0.00001
NM_025137.4(SPG11):c.1235C>G (p.Ser412Ter)	rs312262723

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